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Results 1 - 10 of 202 for HISTIDINE OR THREONINE OR GLYCINE OR PROLINE OR GLUTAMIC ACID OR VALINE OR LYSINE OR ASPARTIC ACID OR PHENYLALANINE OR LEUCINE OR ISOLEUCINE OR TRYPTOPHAN OR TYROSINE OR METHIONINE OR ALANINE OR ARGININE OR SERINE
  1. ... affected. More About This Health Condition ARG arginine-glutamic acid dipeptide (RE) repeats arginine-glutamic acid repeats-encoding gene ARP ATN1L atrophin 2 atrophin- ...
  2. ... assembly, this molecule attaches to the amino acid glutamic acid (Glu) and inserts it into the appropriate locations ... MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT; MMIT TRANSFER RNA, MITOCHONDRIAL, GLUTAMIC ACID; MTTE NCBI Gene ClinVar Horvath R, Kemp JP, ...
  3. ... caused by the replacement of the amino acid glutamic acid with the amino acid glutamine at position 22 ... Arctic type are also caused by changes to glutamic acid at position 22. In the Italian type, glutamic ...
  4. ... acid) in beta-globin. Specifically, the amino acid glutamic acid is replaced with the amino acid valine at ... in beta-globin, written as Glu6Val (E6V). Replacing glutamic acid with valine causes the abnormal hemoglobin S subunits ...
  5. ... One of these mutations replaces the amino acid glutamic acid with the amino acid alanine at position 285 ... Jewish descent. This mutation substitutes the amino acid glutamic acid for the amino acid alanine at position 305 ...
  6. ... alpha-1 antitrypsin deficiency replaces the amino acid glutamic acid with the amino acid lysine at protein position ... S allele. This variant replaces the amino acid glutamic acid with the amino acid valine at protein position ...
  7. ... and is itself converted to the amino acid glutamic acid during the process. It is thought that asparagine ... deficiency. It is unclear whether a lack of glutamic acid or a buildup of glutamine impacts the signs ...
  8. ... characterized by elevated blood levels of the amino acid histidine, a building block of most proteins. Histidinemia is ... making an enzyme called histidase. Histidase breaks down histidine to a molecule called urocanic acid. Histidase is active (expressed) primarily in the liver ...
  9. ... the amino acid valine with the amino acid glutamic acid at position 600 (written as Val600Glu or V600E). ... the BRAF protein: One mutation replaces the amino acid threonine with the amino acid proline at position 241 ( ...
  10. ... the amino acid alanine with the amino acid glutamic acid at a specific position in the FGFR3 protein ( ... substitutes the amino acid arginine for the amino acid proline at a specific position in the FGFR3 protein ( ...
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